"Ambry Genetics"[submitter] AND "STS"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2340316	NM_012080.5(PUDP):c.43A>G (p.Met15Val)	LOC130067915, PUDP +1 more (M15V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3149771	NM_012080.5(PUDP):c.22G>T (p.Val8Phe)	LOC130067915, PUDP +1 more (V8F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1211715	NM_001320752.2(STS):c.97G>A (p.Gly33Ser)	STS (G33S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3171685	NM_001320752.2(STS):c.135C>G (p.Ile45Met)	STS (I57M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477476	NM_001320752.2(STS):c.148A>C (p.Ile50Leu)	STS (I62L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520556	NM_001320752.2(STS):c.250G>A (p.Val84Ile)	STS (V84I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559726	NM_001320752.2(STS):c.262A>G (p.Met88Val)	STS (M100V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218593	NM_001320752.2(STS):c.277C>T (p.Arg93Cys)	STS (R105C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328868	NM_001320752.2(STS):c.322A>G (p.Thr108Ala)	STS (T108A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217238	NM_001320752.2(STS):c.361G>A (p.Gly121Ser)	STS (G121S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171687	NM_001320752.2(STS):c.436C>G (p.Pro146Ala)	STS (P158A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383790	NM_001320752.2(STS):c.455A>G (p.Asn152Ser)	STS (N164S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592672	NM_001320752.2(STS):c.464A>G (p.Tyr155Cys)	STS (Y155C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312824	NM_001320752.2(STS):c.596A>G (p.Asn199Ser)	STS (N211S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223477	NM_001320752.2(STS):c.607C>A (p.Leu203Ile)	STS (L215I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3323442	NM_001320752.2(STS):c.964G>C (p.Asp322His)	STS (D322H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545019	NM_001320752.2(STS):c.991C>G (p.Leu331Val)	STS (L331V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524726	NM_001320752.2(STS):c.1094A>C (p.Asn365Thr)	STS (N365T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356927	NM_001320752.2(STS):c.1115G>A (p.Arg372Gln)	STS (R372Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2053734	NM_001320752.2(STS):c.1133G>A (p.Arg378His)	STS (R390H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2264018	NM_001320752.2(STS):c.1211A>T (p.Lys404Met)	STS (K404M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171682	NM_001320752.2(STS):c.1231C>G (p.Pro411Ala)	STS (P423A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171683	NM_001320752.2(STS):c.1237G>A (p.Asp413Asn)	STS (D425N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254713	NM_001320752.2(STS):c.1291C>T (p.Arg431Cys)	STS (R443C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3171684	NM_001320752.2(STS):c.1300C>T (p.His434Tyr)	STS (H434Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622553	NM_001320752.2(STS):c.1359G>C (p.Gln453His)	STS (Q465H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526695	NM_001320752.2(STS):c.1396C>G (p.Pro466Ala)	STS (P478A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 772035	NM_001320752.2(STS):c.1549C>T (p.Arg517Trp)	STS (R517W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2530652	NM_001320752.2(STS):c.1550G>A (p.Arg517Gln)	STS (R529Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287467	NM_001320752.2(STS):c.1621G>A (p.Asp541Asn)	STS (D541N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3171686	NM_001320752.2(STS):c.1682C>T (p.Thr561Ile)	STS (T561I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781922	NM_001320752.2(STS):c.1733G>A (p.Arg578His)	STS (R590H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign

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Items: 32